Canonical Allele Identifier: CA8618367

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 681522
• ClinVar RCV Id: RCV000841442
• dbSNP Id: rs760084513
• ExAC: 17:44109070 C / CTGTA
• gnomAD v2: 17-44109070-C-CTGTA
• gnomAD v3: 17-46031704-C-CTGTA
• gnomAD v4: 17-46031704-C-CTGTA
• MyVariant Identifiers: chr17:g.44109070_44109071insTGTA (hg19) ; chr17:g.46031704_46031705insTGTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46031705_46031708dup , CM000679.2:g.46031705_46031708dup	GRCh38
NC_000017.10:g.44109071_44109074dup , CM000679.1:g.44109071_44109074dup	GRCh37
NC_000017.9:g.41464918_41464921dup	NCBI36
NG_032784.1:g.198667_198670dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.3091-5_3091-2dup MANE Select	ENSP00000387393.3:n.3091-5_3091-2dup
ENST00000572904.6:c.3091-5_3091-2dup	ENSP00000461484.1:n.3091-5_3091-2dup
ENST00000574590.6:c.3088-5_3088-2dup	ENSP00000461812.2:n.3088-5_3088-2dup
ENST00000575318.6:c.2899-5_2899-2dup	ENSP00000461299.1:n.2899-5_2899-2dup
ENST00000638275.1:c.2899-5_2899-2dup	ENSP00000492576.1:n.2899-5_2899-2dup
ENST00000639805.1:n.508-5_508-2dup
ENST00000648792.1:c.2959-5_2959-2dup	ENSP00000497628.1:n.2959-5_2959-2dup
ENST00000262419.10:c.3091-5_3091-2dup	ENSP00000262419.6:n.3091-5_3091-2dup
ENST00000432791.5:c.3088-5_3088-2dup	ENSP00000387393.2:n.3088-5_3088-2dup
ENST00000572218.5:n.7308-5_7308-2dup
ENST00000572904.5:c.3091-5_3091-2dup	ENSP00000461484.1:n.3091-5_3091-2dup
ENST00000574590.5:c.3091-5_3091-2dup	ENSP00000461812.1:n.3091-5_3091-2dup
ENST00000574963.1:n.859_862dup
ENST00000575318.5:c.2899-5_2899-2dup	ENSP00000461299.1:n.2899-5_2899-2dup
ENST00000576870.5:n.1063-5_1063-2dup
NM_001193465.1:c.3088-5_3088-2dup	NP_001180394.1:n.3088-5_3088-2dup
NM_001193466.1:c.3091-5_3091-2dup	NP_001180395.1:n.3091-5_3091-2dup
NM_015443.3:c.3091-5_3091-2dup	NP_056258.1:n.3091-5_3091-2dup
XM_006721823.1:c.3091-5_3091-2dup	XP_006721886.1:n.3091-5_3091-2dup
XM_006721824.2:c.3091-5_3091-2dup	XP_006721887.1:n.3091-5_3091-2dup
XM_011524628.1:c.3088-5_3088-2dup	XP_011522930.1:n.3088-5_3088-2dup
XM_011524629.1:c.2989-5_2989-2dup	XP_011522931.1:n.2989-5_2989-2dup
XM_011524630.1:c.2902-5_2902-2dup	XP_011522932.1:n.2902-5_2902-2dup
XM_011524631.1:c.2899-5_2899-2dup	XP_011522933.1:n.2899-5_2899-2dup
XM_011524632.1:c.1861-5_1861-2dup	XP_011522934.1:n.1861-5_1861-2dup
XM_006721823.2:c.3091-5_3091-2dup	XP_006721886.1:n.3091-5_3091-2dup
XM_006721824.4:c.3091-5_3091-2dup	XP_006721887.1:n.3091-5_3091-2dup
XM_011524628.3:c.3088-5_3088-2dup	XP_011522930.1:n.3088-5_3088-2dup
XM_011524629.3:c.2989-5_2989-2dup	XP_011522931.1:n.2989-5_2989-2dup
XM_011524630.3:c.2902-5_2902-2dup	XP_011522932.1:n.2902-5_2902-2dup
XM_011524631.3:c.2899-5_2899-2dup	XP_011522933.1:n.2899-5_2899-2dup
XM_011524632.3:c.1861-5_1861-2dup	XP_011522934.1:n.1861-5_1861-2dup
XM_017024488.2:c.2899-5_2899-2dup	XP_016879977.1:n.2899-5_2899-2dup
NM_001193466.2:c.3091-5_3091-2dup	NP_001180395.1:n.3091-5_3091-2dup
NM_015443.4:c.3091-5_3091-2dup MANE Select	NP_056258.1:n.3091-5_3091-2dup
NM_001193465.2:c.3088-5_3088-2dup	NP_001180394.1:n.3088-5_3088-2dup
NM_001379198.1:c.3091-5_3091-2dup	NP_001366127.1:n.3091-5_3091-2dup